Figure 2.

Family tree and molecular findings in the family. (a) Double lines in pedigree indicate consanguinity. Filled and unfilled circles/squares represent affected and unaffected individuals respectively. (b) Sanger sequence of a PCR product amplified with primers targeting exon 8 of LARP7 of individual II.1 and his unaffected parents. (c) Sanger sequence of a PCR product amplified with primers targeting exon 35 of OTOG of individual II.1 and his unaffected parents. Vertical red arrows indicate variant position.